Varaico: Literature-Extracted Genetic Variants

Gene:MED12L
Variant:p.S1585*
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MED12L

NM_053002.6:p.S1585*

Associated Papers

Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review.

Brand MR et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."